A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16084046



Internal ID20156002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21991372..21991373hg38UCSC Ensembl
chr9:21991371..21991372hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558413
Supporting Variants
Samples
Known GenesCDKN2A
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv16084046
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer